Challenging the status quo of genomic medicine.

At PhenoTips we are dedicated to providing you with software and services that bring your workflow into the modern age of genomics.


Working towards a future of unified and usable patient data

PhenoTips is based in Toronto, North America’s fastest-growing tech hub, just steps from the MaRS Discovery District and leading healthcare institutions. Surrounded by innovation, we are inspired to challenge the status quo of medical care in genetics, working towards a future in which patient data is unified and usable, rather than siloed in EHR systems and hospital filing cabinets.


Our mission is to empower clinicians to provide life-saving, personalized care to patients through technologies that make clinical data complete, standardized, shareable, and interoperable.

- Pawel Buczkowicz, PhD, Cancer Genetics and Molecular Pathology, Chief Executive Officer, PhenoTips

Organizations supporting PhenoTips


This is our story.


The challenge

A joint research project between computer scientists at the University of Toronto and geneticists at SickKids Hospital set out to build a database linking phenotypes (physical descriptions) to genotypes (genetic characteristics). Gathering patient records, they soon discovered that mining this data from existing medical records would be impossible due to missing, inconsistent, ambiguous information, muddied by abbreviations and spelling mistakes.


The solution: PhenoTips

A standardized, hierarchical language to describe phenotypes called the Human Phenotype Ontology (HPO) had been recently created. However, there was no practical way for clinicians to use the HPO without manually searching through over 10,000 detailed terms. No tool yet existed for simple and efficient coding of patient records using the HPO, so the team built one and named it PhenoTips.


The company

The PhenoTips company (originally called “Gene42”) transferred out of its host institutions, took ownership of the project, and set to work translating PhenoTips from a research project into a clinic tool, with enhanced security, stability, and health system integration.


A complete Genomic Health Record

PhenoTips grew far beyond the walls of its founding institutions and original capabilities. With pedigree drawing, symptom capture, diagnosis insights, and more, it now functioned as a complete solution for medical genetics. It soon was translated into 5 languages, used in over 60 countries, and integral to genetics workflows in clinics, labs, and hospitals across the globe.


PhenoTips Graduates the Creative Destruction Lab (CDL)

Due to its massive scalability, PhenoTips was one of 21 companies to graduate from the Health stream of the Creative Destruction Lab (CDL), a startup accelerator for science- and technology- based companies. During the 9 months of the program the company experienced tremendous growth, nearly doubling in size and rebranding from the former company name, “Gene42”, to “PhenoTips”. This accomplishment marks a significant milestone as PhenoTips prepares for long-term, accelerated growth.


PhenoTips Closes Oversubscribed Seed Funding Round of $2.5M

In an oversubscribed seed funding round led by the GreenSky Accelerator Fund IV, PhenoTips secured CAD$2.5 million to double the size of its twelve-person team and expand its cloud-based product offerings. The company’s first equity financing positions PhenoTips as the de-facto solution for genetics and genomics providers worldwide as they prepare to scale services to accommodate the integration of genetics into everyday care.


PhenoTips Pledges 1% Equity to Support Leading Rare Disease Charities and Research Centres

To stay true to the company’s origins during a period of accelerated growth, PhenoTips pledged 1% of its equity to the Upside Foundation of Canada, in support of CHEO Foundation, SickKids Foundation and the Canadian Organization for Rare Disorders (CORD). The pledge reinforced the company’s core values by supporting the advancement of rare and genetic disorder research, as well as researchers and clinicians driving genomic medicine forward and expanding its application and availability to improve diagnosis and care.


PhenoTips Named One of Canada’s Best Startup Employers

PhenoTips was selected as one of 200 Best Canadian Startup Employers from 1,500 Canadian companies shortlisted for the award based on employer reputation, employee satisfaction, and business growth. This honor encourages the company’s efforts, fostering employee growth, satisfaction, and engagement to co-create an environment that breeds innovation and collaboration.

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